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Detailed information for vg0403254268:

Variant ID: vg0403254268 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 3254268
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTTCATCGCAACTAGTCCTCCACAATATTCATCCCGATGCCATTGCCCCACCGGGCGTTCCCAAGCTTCTTCGTCGCGGGCTGCTGGTCGTCTGCAAGAT[T/C]
TGTGGATGACATTGTTCGTCCACGAGCTTCATTGCCACAGTCAGGCCACCACAATCTTCGTAGTCAAACTGTTACGCCACCAGACATCCAAGAGTTTCTT

Reverse complement sequence

AAGAAACTCTTGGATGTCTGGTGGCGTAACAGTTTGACTACGAAGATTGTGGTGGCCTGACTGTGGCAATGAAGCTCGTGGACGAACAATGTCATCCACA[A/G]
ATCTTGCAGACGACCAGCAGCCCGCGACGAAGAAGCTTGGGAACGCCCGGTGGGGCAATGGCATCGGGATGAATATTGTGGAGGACTAGTTGCGATGAAG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.30% 7.00% 0.44% 3.30% NA
All Indica  2759 95.60% 0.80% 0.25% 3.37% NA
All Japonica  1512 83.80% 11.50% 0.86% 3.84% NA
Aus  269 51.70% 46.80% 0.37% 1.12% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 98.90% 0.00% 0.00% 1.08% NA
Indica III  913 90.90% 1.40% 0.44% 7.23% NA
Indica Intermediate  786 95.80% 1.00% 0.38% 2.80% NA
Temperate Japonica  767 78.20% 19.00% 1.43% 1.30% NA
Tropical Japonica  504 93.70% 3.40% 0.20% 2.78% NA
Japonica Intermediate  241 80.90% 4.60% 0.41% 14.11% NA
VI/Aromatic  96 95.80% 4.20% 0.00% 0.00% NA
Intermediate  90 93.30% 4.40% 0.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0403254268 T -> C LOC_Os04g06260.1 upstream_gene_variant ; 3533.0bp to feature; MODIFIER silent_mutation Average:54.197; most accessible tissue: Zhenshan97 young leaf, score: 90.175 N N N N
vg0403254268 T -> C LOC_Os04g06244-LOC_Os04g06260 intergenic_region ; MODIFIER silent_mutation Average:54.197; most accessible tissue: Zhenshan97 young leaf, score: 90.175 N N N N
vg0403254268 T -> DEL N N silent_mutation Average:54.197; most accessible tissue: Zhenshan97 young leaf, score: 90.175 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0403254268 T C 0.04 0.02 0.01 0.03 0.03 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0403254268 3.94E-06 1.44E-16 Awn_length All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0403254268 NA 2.57E-09 Awn_length Jap_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0403254268 4.05E-07 NA Heading_date All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0403254268 NA 5.23E-10 Heading_date Jap_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0403254268 9.19E-06 NA mr1549 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0403254268 NA 2.75E-10 mr1549 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0403254268 5.15E-08 1.94E-37 mr1757 All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0403254268 NA 5.69E-12 mr1757 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0403254268 1.30E-06 2.30E-33 mr1549_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0403254268 NA 1.09E-08 mr1549_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0403254268 NA 2.94E-07 mr1733_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0403254268 2.99E-06 5.87E-28 mr1757_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0403254268 NA 4.90E-10 mr1757_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251